Oxford Medical Case Reports最新文献

A 28-year-old woman presented in the emergency with sudden, painless bilateral loss of vision over one week. Fundus examination revealed multiple white-centered retinal hemorrhages (Roth spots), cotton wool spots, and multiple retinal hemorrhages in both eyes, indicative of anemic retinopathy. Laboratory evaluation showed profound pancytopenia: hemoglobin 2.3 g/dl, leukocyte count 3.0 × 10^9/l, platelet count 92 × 10^9/l, with elevated mean corpuscular volume (107 fl). Serum cobalamin (vitamin B12) was 57 pg/ml and folate 3.5 ng/ml, consistent with megaloblastic anemia due to vitamin B12 deficiency. Peripheral blood smear confirmed macro-ovalocytes and hypersegmented neutrophils. The patient was managed emergently with packed red blood cell transfusions and parenteral vitamin B 12 and folate supplementation. Two weeks later, her hemoglobin had improved to 10.1 g/dl, and follow-up fundus examination showed marked resolution of retinal hemorrhages and Roth spots with partial visual recovery. This case highlights that severe megaloblastic anemia can present as an acute ophthalmic emergency.

We report the case of a patient with 13 metastatic small bowel tumours presenting with upper gastrointestinal bleeding. He had a video-assisted thoracoscopic left upper lobectomy a year previously for a lung adenocarcinoma. Histological findings of the resected small bowel confirmed a poorly differentiated anaplastic adenocarcinoma (pT3 N1 Mx). Molecular testing on the tumour showed that it harboured KRAS c.182A > T (p.Gln61Leu) mutation, which was similar to the mutation reported on the primary lung adenocarcinoma. Based on this he received adjuvant chemotherapy and immunotherapy (carboplatin, pemetrexed and pembrolizumab) and a CT scan performed two months after the small bowel resection demonstrated no evidence of tumour recurrence. He, however, developed chemotherapy-related nausea and vomiting, and with further deterioration was placed on a palliative care pathway and died 3 months after the bowel resection. This case highlights the role of integrating histopathology, immunohistochemistry, and molecular genetics in distinguishing metastatic from primary small intestinal adenocarcinomas.

Schwannomas are rare, mostly asymptomatic neoplasms originating from peripheral nerves, with primary occurrence in the lung being exceptionally rare. Diagnosis is primarily incidental or prompted by symptoms caused by mass effect on nearby organs. Lacking characteristic clinical or radiological features, their appearance as cystic lung lesions are very likely to be confused with pulmonary hydatidosis, especially in the endemic regions. Thus, whenever an individual presents with an incidental lung mass, schwannoma needs to be considered as one of the differentials alongside other benign cystic lesions or neoplasms.

[This corrects the article DOI: 10.1093/omcr/omaf307.].

Background/objective: The aims of this case report study was to investigate the effect of both ablative and non-ablative laser sources in the restoration of the epidermal profile with split-face confocal optical coherence tomography (LC-OCT) evaluation.

Methods: A patient was treated with a standard laser treatment that use simultaneously both ablative and non-ablative sources in split face mode; one side with CO₂ alone and the other with the combined use of CO₂ and a 1540 nm emission. LC-OCT imaging was carried out before the procedure (T0), at 24 hours (T1), and at 7 days (T7).

Results: In the CO₂ + 1540 nm modality, the general appearance was comparable to the CO₂-only side. At T7, the CO₂-only side demonstrated substantial clinical recovery, while the combined CO₂ + 1540 nm side shows faster re-epithelialization. This split-face LC-OCT evaluation highlights that both treatment modalities induce comparable early inflammatory changes.

Background: Skin metastasis secondary to visceral malignancy is a rare but poor prognostic occurrence. We report a rare case of gastroesophageal junction (GEJ) adenocarcinoma with skin metastases, highlighting the challenges in managing such cases.

Case presentation: A 63-year-old male diagnosed with stage IV Siewert 3 GEJ adenocarcinoma with initial extensive skin metastases. Palliative radiation and four cycles of first-line FOLFOX resulted in progression and new skin lesions. A second-line FOLFIRI and third-lines taxane regimens failed to yield clinical improvement and stop progression. His disease worsened with widespread metastases including omentum and peritoneum. He died 9 months after initial presentation due to intestinal perforation secondary to neutropenic fever.

Conclusion: Skin metastases from GEJ adenocarcinoma are associated with aggressive disease chemotherapy resistance. A multidisciplinary approach, palliative care, and novel strategies are essential for managing such cases.

Aquagenic palmoplantar keratoderma is a rare dermatological condition characterized by mild palmar thickening and burning pain upon exposure to water. A 31-year-old female with aquagenic keratoderma of the palms associated with palmoplantar hyperhidrosis presenting with wrinkling and hyperkeratosis within minutes of hand contact with water, resolving quickly after drying. While cystic fibrosis is a known association, most cases remain idiopathic. Treatment options such as 20% aluminum hydroxide, aluminum chloride (15%-20%), urea, salicylic acid, and botulinum toxin can be challenging, with the patient being evaluated after treatment with 16% aluminum chloride.

Renal tubular acidosis (RTA) often presents as failure to thrive in children. In a resource-limited country, the diagnosis of renal tubular acidosis can be delayed or even missed because of the co-existing high burden of malnutrition. Here we report a case of a neonate/infant who presented with diarrhoea and failure to thrive and subsequently developed septic shock. During the management of the child, proximal renal tubular acidosis was diagnosed based on the persistence of metabolic acidosis with hyperchloremia. Proximal renal tubular acidosis (pRTA) can lead to complications, such as electrolyte disorders, bony deformities. Prompt diagnosis, appropriate treatment, and long-term follow-up are imperative for achieving good outcomes.